Generation and characterization of a zebrafish gain-of-function ACOX1 Mitchell disease model

Autor: Quentin Raas, Austin Wood, Tamara J. Stevenson, Shanna Swartwood, Suzanne Liu, Rangaramanujam M. Kannan, Sujatha Kannan, Joshua L. Bonkowsky

Publikováno v: Frontiers in Pediatrics, Vol 12 (2024)

BackgroundMitchell syndrome is a rare, neurodegenerative disease caused by an ACOX1 gain-of-function mutation (c.710A>G; p.N237S), with fewer than 20 reported cases. Affected patients present with leukodystrophy, seizures, and hearing loss. ACOX1 ser

Externí odkaz: https://doaj.org/article/bf6d5882622a4b7e9b5b2ce577e8e0b1

Peroxisomal defects in microglial cells induce a disease-associated microglial signature

Autor: Quentin Raas, Ali Tawbeh, Mounia Tahri-Joutey, Catherine Gondcaille, Céline Keime, Romain Kaiser, Doriane Trompier, Boubker Nasser, Valerio Leoni, Emma Bellanger, Maud Boussand, Yannick Hamon, Alexandre Benani, Francesca Di Cara, Caroline Truntzer, Mustapha Cherkaoui-Malki, Pierre Andreoletti, Stéphane Savary

Publikováno v: Frontiers in Molecular Neuroscience, Vol 16 (2023)

Microglial cells ensure essential roles in brain homeostasis. In pathological condition, microglia adopt a common signature, called disease-associated microglial (DAM) signature, characterized by the loss of homeostatic genes and the induction of dis

Externí odkaz: https://doaj.org/article/e61fd3afe1cd4f0d9a7144d4fea8bc3c

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy

Autor: Tamara Stevenson, Stephan Kemp, Malu-Clair van de Beek, Abigail Deschiffart, Sonja Forss-Petter, Florian Eichler, Joshua L. Bonkowsky, Johannes Berger, Marc Engelen, Briana C. Freshner, Joo-Yeon Engelen-Lee, Michel van Weeghel, Inge M. E. Dijkstra, Yorrick R. J. Jaspers, Ronald J.A. Wanders, Quentin Raas, Liselotte Nagtzaam

Publikováno v: J Clin Invest
Journal of clinical investigation, 131(8):e142500. The American Society for Clinical Investigation

X-linked adrenoleukodystrophy (ALD) is a progressive neurodegenerative disease caused by mutations in ABCD1, the peroxisomal very long-chain fatty acid (VLCFA) transporter. ABCD1 deficiency results in accumulation of saturated VLCFAs. A drug screen u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ef62afe352507fcba354c1d1953059d
https://pubmed.ncbi.nlm.nih.gov/33690217

CRISPR/Cas9-mediated knockout of Abcd1 and Abcd2 genes in BV-2 cells: novel microglial models for X-linked Adrenoleukodystrophy

Autor: Gérard Lizard, Claudio Caccia, Valerio Leoni, Doriane Trompier, Yannick Hamon, Franck Ménétrier, Stéphane Savary, Quentin Raas, Catherine Gondcaille

Publikováno v: Biochimica et Biophysica Acta Molecular and Cell Biology of Lipids
Biochimica et Biophysica Acta Molecular and Cell Biology of Lipids, 2019, 1864 (5), pp.704-714. ⟨10.1016/j.bbalip.2019.02.006⟩
Biochimica et Biophysica Acta Molecular and Cell Biology of Lipids, Elsevier, 2019, 1864 (5), pp.704-714. ⟨10.1016/j.bbalip.2019.02.006⟩
Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids
Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids, 2019, 1864 (5), pp.704-714. ⟨10.1016/j.bbalip.2019.02.006⟩

X-linked adrenoleukodystrophy (X-ALD), the most frequent peroxisomal disorder, is associated with mutation in the ABCD1 gene which encodes a peroxisomal ATP-binding cassette transporter for very long-chain fatty acids (VLCFA). The biochemical hallmar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d40106d37c4c04f02795fae79d1e33fa
https://hal.science/hal-02359446

Evidence of K+ homeostasis disruption in cellular dysfunction triggered by 7-ketocholesterol, 24S-hydroxycholesterol, and tetracosanoic acid (C24:0) in 158N murine oligodendrocytes

Autor: Jérôme De Seze, Thomas Nury, Gérard Lizard, Mustapha Cherkaoui-Malki, Quentin Raas, Mohamed El-Ayeb, Meryam Debbabi, Mohammad Samadi, Anne Vejux, Maryem Bezine, Rym Ben-Khalifa, Thibault Moreau

Publikováno v: Chemistry and Physics of Lipids
Chemistry and Physics of Lipids, Elsevier, 2017, 207 (Pt B), pp.135-150. ⟨10.1016/j.chemphyslip.2017.03.006⟩

International audience; Imbalance in the homeostasis of K+ ions has been reported to contribute to the pathogenesis of neurodegenerative diseases. 7-ketocholesterol (7KC), 24S-hydroxycholesterol (24S-OHC), and tetracosanoic acid (C24:0), often found

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3bdcec9f601194a1c3ddf921e1b1830
https://hal-riip.archives-ouvertes.fr/pasteur-01964971